Tag Archive: research hero

From the time Antonio Rosato was diagnosed with Duchenne muscular dystrophy (DMD) at age 4½, his family was eager for him to participate in a clinical research trial. They wanted to give him access to the latest advances in pharmacological and disease management approaches for DMD, an opportunity that Antonio’s uncle Artie, who was diagnosed with the same neuromuscular disease four decades ago, did not have.

Editor’s Note: This occasional blog series features stories of CHOP research heroes who have participated in clinical research studies. Without the generosity and dedication of families, patients, and members of the public who take the time to be a part of research, many trials would not succeed.

Nick Pautler, a biomedical engineering student at the University of Delaware, can tell you how a lot of things work – from the microbial science behind baking sourdough bread, to the intricacy of model railroads, to the way that an army of re-engineered T-cells worked hard to fight the cancer cells in his body this past year.

At 2 ½ years old, pediatricians at Children’s Hospital of Philadelphia diagnosed Brynn Clare Connor with Rett syndrome, a rare neurodevelopmental disorder that disrupts a child’s communication, coordination, muscle control, and growth over time. Caused by a mutation in the MECP2 gene, Rett syndrome can occur in both genders but almost exclusively affects girls.

August is perfect for lazy summer days, but our pediatric research news never rests. So whether you’re lounging by the pool or relaxing in a shady hammock, pull up In the News to find out the science that is hot at The Children’s Hospital of Philadelphia.